Conservative management of small bowel perforation in Ehlers-Danlos syndrome type IV

Abstract

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders caused by collagen synthesis defects. EDS type IV, or vascular EDS, is caused by loss-of-function mutations in the type III pro-collagen gene (COL3A1). Common complications of EDS type IV include gastrointestinal bleeding and bowel perforations, posing diagnostic and therapeutic dilemmas for both surgeons and gastroenterologists. Here, we describe a complicated case of EDS type IV in a 35-year-old caucasian female who presented with overt gastrointestinal bleeding. The patient had a prior history of spontaneous colonic perforation, and an uncomplicated upper endoscopy was performed. A careful ileoscopy was terminated early due to tachycardia and severe abdominal pain, and a subsequent computed tomography scan confirmed the diagnosis of ileal perforation. The patient was managed conservatively, and demonstrated daily improvement. At the time of hospital discharge, no further episodes of gastrointestinal blood loss had occurred. This case highlights the benefit of conservative management for EDS patients with gastrointestinal hemorrhage. It is recommended that surgical treatment should be reserved for patients who fail conservative treatment or in cases of hemodynamic instability. Finally, this case demonstrates the necessity for a higher threshold of operative or endoscopic interventions in EDS type IV patients.

Gastric Perforation Leading to The Diagnosis of Classic Ehlers Danlos syndrome: A Case Report of an Unusual Presentation.

“…Surgical management of patients with vascular EDS who develop acute GI complications such as bleeding or perforation has been described in the literature. These approaches range from conservative non-surgical management of intestinal perforation to more conventional surgical management with resection of appropriate segments of the gut (20) 25) (26 (27) . Some cases underwent segmental bowel resection and primary repair with stoma creation with attempts of reversal afterward (18) (28) .…”

Increased Need for Gastrointestinal Surgery and Increased Risk of Surgery-Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

“…The predefined primary and secondary outcomes were predominantly reported in the included studies concerning vascular EDSs, suggesting a possible detection bias. The vascular subtype comprises only 5% of the gathered EDSs patient group [1,8] , and is thus heavily overrepresented in research of complications regarding GI surgery. Lastly, the majority of the studies consisted of questionnaires and personal observational case series, presenting a notable risk of self-report bias.…”

“…The prevalence of EDSs is estimated between 1: 1,000 and 1: 25,000 [8] , of which the classic, hypermobility, and vascular types are most common [1,8] .…”

“…tion recognizes 6 clinical subtypes of EDSs [7] ( table 2 ), each clinically diagnosed according to defined minor and major criteria, and each presenting with a broad variety in penetrance and severity of clinical symptoms and outcomes after surgical procedures [8] . The prevalence of EDSs is estimated between 1: 1,000 and 1: 25,000 [8] , of which the classic, hypermobility, and vascular types are most common [1,8] .…”

Colonoscopy is safe and not associated with higher pain scores in patients with hypermobility spectrum disorder: results from an exploratory prospective study

“…As far as gastroenterology practice is concerned, evidence suggests that EDS may pose particular risk for spontaneous or instrumentation-related intestinal rupture. [3][4][5][6][7][8] A recent retrospective study showed, however, that this increased risk was entirely accounted for by patients having vascular EDS but not other EDS subtypes, such as hEDS. 9 Another anecdotal but yet scientifically unproven concern is related to colonoscopy being more painful or difficult for the endoscopist in patients with EDS.…”